title: Variable clinical outcome of ABCA3 deficiency in two siblings.
abstract: This case report describes an unusual outcome of ABCA3 deficiency with resolution of symptoms, normalization of chest imaging and lung function in a 9-year-old child whose sibling died of the same disease in infancy.
authors.affiliation: Division of Respiratory Medicine, The Hospital for Sick Children, Pediatrics, Toronto, Ontario, Canada; University of Toronto, Toronto, Canada.
authors.forename: Surendran
authors.initials: S
authors.lastname: Thavagnanam
authors.forename: Ernest
authors.initials: E
authors.lastname: Cutz
authors.forename: David
authors.initials: D
authors.lastname: Manson
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Nogee
authors.forename: Sharon D
authors.initials: SD
authors.lastname: Dell
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000172:deficiency* / Q000235:genetics; D002675:Child, Preschool; D017809:Fatal Outcome; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D008297:Male; D011379:Prognosis; D011649:Pulmonary Alveolar Proteinosis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D012129:Respiratory Function Tests; D035781:Siblings; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters
keywords: ABCA3; pediatric; respiratory